Canonical Allele Identifier: CA379475402

Gene: TPP1

Linked Data

• dbSNP Id: rs1257914537
• gnomAD v2: 11-6638252-T-C
• gnomAD v4: 11-6617021-T-C
• MyVariant Identifiers: chr11:g.6638252T>C (hg19) ; chr11:g.6617021T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617021T>C , CM000673.2:g.6617021T>C	GRCh38
NC_000011.9:g.6638252T>C , CM000673.1:g.6638252T>C	GRCh37
NC_000011.8:g.6594828T>C	NCBI36
NG_008653.1:g.7441A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.527A>G	ENSP00000507321.1:p.Gln176Arg
ENST00000299427.12:c.641A>G MANE Select	ENSP00000299427.6:p.Gln214Arg
ENST00000436873.7:c.312+280A>G
ENST00000524788.2:n.1800A>G
ENST00000524903.2:n.1916A>G
ENST00000528807.2:n.297A>G
ENST00000530040.2:n.479+338A>G
ENST00000533371.6:c.-89A>G	ENSP00000437066.1:n.-89A>G
ENST00000534644.6:n.589A>G
ENST00000642892.1:c.-89A>G	ENSP00000494165.1:n.-89A>G
ENST00000643439.1:c.*381A>G	ENSP00000495849.1:n.*381A>G
ENST00000643479.1:n.670A>G
ENST00000643516.1:c.395+280A>G
ENST00000644151.1:n.2080A>G
ENST00000644218.1:c.641A>G	ENSP00000493574.1:p.Gln214Arg
ENST00000644683.1:c.*94A>G	ENSP00000494085.1:n.*94A>G
ENST00000644810.1:c.362A>G	ENSP00000495895.1:p.Gln121Arg
ENST00000644831.1:n.817A>G
ENST00000644933.1:c.-89A>G	ENSP00000496133.1:n.-89A>G
ENST00000645020.1:n.1816A>G
ENST00000645285.1:c.-89A>G	ENSP00000495058.1:n.-89A>G
ENST00000645331.1:n.1007A>G
ENST00000645620.1:c.-89A>G	ENSP00000493657.1:n.-89A>G
ENST00000646777.1:n.817A>G
ENST00000647016.1:n.1121A>G
ENST00000647152.1:c.-89A>G	ENSP00000495893.1:n.-89A>G
ENST00000647209.1:c.*510A>G	ENSP00000495558.1:n.*510A>G
ENST00000647346.1:n.1661A>G
ENST00000299427.10:c.641A>G	ENSP00000299427.6:p.Gln214Arg
ENST00000428886.6:n.810A>G
ENST00000436873.6:c.450+338A>G	ENSP00000398136.2:n.450+338A>G
ENST00000524788.1:n.341A>G
ENST00000528571.5:c.*381A>G	ENSP00000434647.1:n.*381A>G
ENST00000528807.1:n.191A>G
ENST00000533371.5:c.-89A>G	ENSP00000437066.1:n.-89A>G
ENST00000534644.5:n.626A>G
ENST00000611494.4:c.641A>G	ENSP00000484546.1:p.Gln214Arg
NM_000391.3:c.641A>G	NP_000382.3:p.Gln214Arg
NM_000391.4:c.641A>G MANE Select	NP_000382.3:p.Gln214Arg